TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits

(2019) Jessica van Setten et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy

(2019) Francesco Muntoni et al.   PLoS One

Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in Duchenne muscular dystrophy

(2018) Robert B. Weiss et al.   ANNALS OF NEUROLOGY

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

(2016) Luca Bello et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Multi-omics enrichment analysis using the GeneTrail2 web service

(2016) Daniel Stöckel et al.   BIOINFORMATICS

The importance of genetic diagnosis for Duchenne muscular dystrophy

(2016) Annemieke Aartsma-Rus et al.   JOURNAL OF MEDICAL GENETICS

Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy

(2016) Volker Straub et al.   LANCET NEUROLOGY

Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study

(2015) Luca Bello et al.   ANNALS OF NEUROLOGY

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials

(2015) Valeria Ricotti et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Integrated interactions database: tissue-specific view of the human and model organism interactomes

(2015) Max Kotlyar et al.   NUCLEIC ACIDS RESEARCH

A Proteome-Scale Map of the Human Interactome Network

(2014) Thomas Rolland et al.   CELL

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessingSPP1andLTBP4variants

(2014) Janneke C van den Bergen et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

THE 6-minute walk test and other endpoints in Duchenne muscular dystrophy: Longitudinal natural history observations over 48 weeks from a multicenter study

(2013) Craig M. Mcdonald et al.   MUSCLE & NERVE

The cooperative international neuromuscular research group Duchenne natural history study: Glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and othe

(2013) Erik K. Henricson et al.   MUSCLE & NERVE

The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: Reliability, concurrent validity, and minimal clinically important differences from a multicenter study

(2013) Craig M. McDonald et al.   MUSCLE & NERVE

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

195th ENMC International Workshop: Newborn screening for Duchenne muscular dystrophy 14–16th December, 2012, Naarden, The Netherlands

(2013) Juliet A. Ellis et al.   NEUROMUSCULAR DISORDERS

Expression Atlas update—a database of gene and transcript expression from microarray- and sequencing-based functional genomics experiments

(2013) Robert Petryszak et al.   NUCLEIC ACIDS RESEARCH

Biochemical Characterization of Patients With In-Frame or Out-of-FrameDMDDeletions Pertinent to Exon 44 or 45 Skipping

(2013) Karen Anthony et al.   JAMA Neurology

LTBP4genotype predicts age of ambulatory loss in duchenne muscular dystrophy

(2012) Kevin M. Flanigan et al.   ANNALS OF NEUROLOGY

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis

(2012) Mary J Emond et al.   NATURE GENETICS

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

(2012) L. Bello et al.   NEUROLOGY

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up

(2011) Francesca Magri et al.   JOURNAL OF NEUROLOGY

Functional changes in Duchenne muscular dystrophy: A 12-month longitudinal cohort study

(2011) E. Mazzone et al.   NEUROLOGY

Stampy: A statistical algorithm for sensitive and fast mapping of Illumina sequence reads

(2010) G. Lunter et al.   GENOME RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy

(2010) E. Pegoraro et al.   NEUROLOGY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

(2009) Fiona L. M. Norwood et al.   BRAIN

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

(2009) Katharine Bushby et al.   LANCET NEUROLOGY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Reliability of the North Star Ambulatory Assessment in a multicentric setting

(2009) E.S. Mazzone et al.   NEUROMUSCULAR DISORDERS

Clinical Heterogeneity of Duchenne Muscular Dystrophy (DMD): Definition of Sub-Phenotypes and Predictive Criteria by Long-Term Follow-Up

(2009) Isabelle Desguerre et al.   PLoS One